rs75527207
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;A: Double homozygote for cystic fibrosis G551D allele
- Gene
- CFTR
- Location
- Chr 7117,587,806 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadDouble homozygote for cystic fibrosis G551D allele
- A;GBadCarrier for cystic fibrosis G551D allele
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CFTR SNPs
- i4000292D;Dcystic fibrosisVery important
- rs74551128A;ACystic fibrosisVery important
- rs113993960-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- rs199826652-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- i4000309A;ACystic FibrosisVery important
- i4000294A;ACystic FibrosisVery important
- i4000296T;TCystic FibrosisVery important
- i4000297A;ACystic FibrosisVery important
Notes
From SNPedia
Show notes, about 200 words
. Known primarily as G551D (although sometimes also called G511D) and also known as i4000305 by 23andMe, rs75527207 is a rare variant in the cystic fibrosis CFTR gene is thought to be present in ~1,200 patients in the US. The risk allele is rs75527207(A). G551D is termed a 'gating mutant', and is considered to be a somewhat different class of cystic fibrosis mutation compared to variants that lead to misfolded proteins. Like almost all cystic fibrosis variants, individuals must inherit two defective CFTR alleles to manifest the disease; since G551D is ~20 times rarer than the most common CFTR variant, deltaF508, patients carrying one G551D variant are likely to be compound heterozygotes harboring an additional CFTR variant. In early 2012, the biotech company Vertex Pharmaceutics received FDA approval to sell the drug Kalydeco (ivacaftor) to G551D cystic fibrosis patients over the age of 6. In phase 3 trials, Kalydeco increased lung function by 10% (in 161 patients) compared to placebo, and showed improvements in weight gain along with reductions in cough and sputum production. See also: OMIM 602421.0013 additional names used by 23andMe for this SNP: i5006054, i5011331 FTDNA & MyHeritage name: VG07S29293
Source and license
Adapted from rs75527207 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.